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Tuesday, January 12, 2010

How to Have a PJS Free Baby

How to Have a PJS Free Baby
Stephanie Sugars
December 2008

The question about how to have a PJS-free baby came from people with PJS living in China, but my answer will help others around the world. I've been studying for months and have many resources. I will simplify the steps in this original email and give explanations, thoughts and references in future emails.

Remember, I'm a patient not a medical professional. This isn't medical (or ethical) advice! But it is a patient-view report. My goal is to address questions of people with PJS including potential parents.

Here's a recipe for a PJS-baby, using current techniques (in vitro fertilization and preimplantation genetic diagnosis):

1. Decide whether you want a baby created from one woman's egg (biological mom) and one man's sperm (biological dad). If this isn't the main issue, there are many ways to have a PJS-free baby.

2. If you want a PJS-free baby from bio-mom and bio-dad and one potential parent is affected with PJS, determine that both potential parents are fertile. Many PJS people of both genders report infertility issues. This might be due to ovarian sex cord tumors in PJS women or testicular tumors in PJS men. Also, cancer treatment can affect fertility.

3. Assuming both potential parents are fertile, get genetic testing for PJS person. If no mutation can be found, the rest of these steps won't work. BTW, remember all PJS genetic testing isn't equal. MLPA can detect more mutations than other methods.

4. Find an Assisted Reproductive Technology facility. You can do this online. Try google searches for in-vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) too.
a. These high technology procedures are more available in large cities.
b. Many countries prohibit it.
c. The Roman Catholic church frowns on it.
d. Many health insurance companies won't pay for it.
e. Patients travel abroad for it. (Medical tourism)
f. Access will continue to change over time.

7. If the implanted embryos take hold and mature to birth, a PJS-free baby is born.

That's it. Overcome the obstacles of access, time, money, societal opposition (in some places) and medical procedures and it's possible to have a PJS-free baby.

Love,
Stephanie

Details of above steps -

Part 2:
How to do it:
1. Decide whether you want a baby created from one woman's egg (biological mom) and one man's sperm (biological dad). If this isn't the main issue, there are many ways to have a PJS-free baby.

Working on this topic I realized how few traditional 1 mother + 1 father = 1 baby families I know. It's phenomenal to consider how many parents are raising "other people's children". And how many mixed and extended families there are. There are both traditional methods for caring for children and untraditional.

Traditional methods include adoption:
From family or community member
From adoption agency
Through foster-adopt programs
Internationally from other countries (many girls from China in California, surely some available for adoption in China).
Adopt an older child.

Marry someone who's had children from prior relationship. Adopt.

Many grandparents are raising grandchildren, aunts & uncles raising nieces and nephews., called kinship care.
****
Modern, less traditional, methods include assisted reproductive technology which uses not only PGD with IVF, but sperm or egg donors and surrogate mothers.

If PJS potential parent is male, use a sperm donor.
If female, use an egg donor.
If female can't carry the child, use a surrogate mother.

It's possible to check a "naturally conceived" embryo for PJS (if PJS parent's mutation is known) and to abort if affected.

All these methods have costs/risks and benefits. Many are too expensive for the average person/family. And someone with a serious health history like cancer or PJS might not be able to adopt.

Part 3:
This isn't PJS, but I couldn't find any news or medical journal stories of PGD in PJS potential parents. You'll get an idea of how successful this is. - Stephanie
**********
New test spares couples with familial cancer the trauma of termination

A new way of sparing couples the trauma of having to decide between having a baby with a high risk of developing a form of colorectal cancer later in life, or terminating the pregnancy, will be revealed on 20 June 2006 at the 22nd annual conference of the European Society of Human Reproduction and Embryology in Prague, Czech Republic. Professor Stéphane Viville, director of the biology of reproduction service at Strasbourg University Hospital, Strasbourg, France, will tell the conference that, using his team's new test, it will be possible to offer preimplantation genetic diagnosis (PGD) to almost all cases of familial adenomatous polyposis (FAP), an adult-onset cancer which represents 1% of all cases of colorectal cancer.

PGD was originally proposed for couples at risk of having a child affected by severe genetic disorders such as cystic fibrosis, which manifest themselves at birth or in very early childhood. However, it is now possible to test for some diseases that occur at a later stage in life, such as Huntington's disease and some hereditary cancers. "Because the child will carry only a risk – albeit it a high one – of developing these conditions during adulthood, many parents, as well as clinicians, have doubts about terminating such a pregnancy," Professor Viville says. "In fact some couples would prefer not to have children in these circumstances."

Twelve couples with a risk of passing on FAP to any children were referred to Professor Viville and his team between 2000 and 2005. At first the team worked on tests to detect the most common FAP mutation, but then, by carrying out double and triple diagnostic tests on each cell, were able to detect the many rarer mutations that are involved in familial cases. "Because the pathology is dominant, and only one member of the couple is affected and at risk of transmitting the disease," said Professor Viville, "we only have to look for one mutation at a time.

"But there are a number of these mutations and therefore it is necessary to develop a different test for each if we are to be sure that PGD will be effective. Our test is very robust as well as being technically innovative – for the first time in this disease we have been able to use molecular technology at the single cell level, which allows us to detect mutations that are otherwise very difficult to identify."

The team started eleven IVF cycles, of which nine gave rise to embryo biopsy and eight had an embryo transfer. From these, one boy has been born and two other pregnancies are on-going. Reanalysis of eleven un-transferred embryos confirmed PGD results for FAP mutations.

"We are now able to propose PGD to most couples at risk of transmitting a familial form of FAP to their children", says Professor Viville. "With our experience growing all the time, we hope that we will shortly be able to develop new protocols which will enable us to offer PGD for all mutations involved in FAP, including those which occur for the first time."

Public release date: 19-Jun-2006

Part 4:
4. Find an Assisted Reproductive Technology facility. You can do this online. Try google searches for in-vitro fertilization (IVF) and preimplantation genetic diagnosis (PGD) too.
a. These high technology procedures are more available in large cities.
b. Many countries prohibit or limit it.
c. The Roman Catholic church frowns on it.
d. Many health insurance companies won't pay for it.
e. Patients travel abroad for it. (Medical tourism)
f. Access will continue to change over time.

You'll need to remember that PJS is an autosomal dominant disorder. This is in contrast to sex-linked or recessive disorders. A single gene (LKB1 OR STK11 on chromosome 19) can be tested for a mutation that gives PJS. Each child of a PJS affected bio-parent has a 50-50 chance of getting PJS.

Part 6:
7. If the implanted embryos take hold and mature to birth, a PJS-free baby is born.

Here's another thought:

Why not do it the old-fashioned way?

1 bio-mom + 1 bio-dad = 1 bio-baby

If mom or dad has PJS, each child has a 50-50 chance of having PJS. Maybe it's not so bad to have PJS. Maybe there are some really good aspects to it. And if it is so bad, maybe choose not to have children altogether.

Over years many parents of PJS children have said, "I love my PJS child and couldn't imagine life without him/her". But they also suffer great distress over the suffering of their affected children. It's not an easy choice to take the risk of creating a PJS child.

I don't know enough about China or its one-child policy to answer specific questions for members there.

But I think the questions are similar around the world. Is PJS considered a genetic problem and PJS parents defective? Is it a bad enough problem to prevent childbearing? Would there be social stigma if a PJS baby were born of a PJS parent? Are bio-moms responsible for the quality of babies they produce – PJS babies of inferior genetic quality? What medical care is available for PJS adults? Children?

In a world where it's possible to have a PJS-free baby, will it be seen as irresponsible to take the 50-50 conception risk?

Will children be able to file "wrongful birth" suits against parents who take that risk?

How bad is it to be a PJS person? How much difficulty comes from the disorder itself? From lack of proper medical care? From lack of access to medical care? Does our perception of difficulty change over time as internal and external conditions change?

What of potential parents with PJS-related health concerns who can't cope physically or financially or psychologically with another affected family member, especially one they're responsible for co-creating? Surely we can't decide for someone else whether they should take the risk of bearing and raising a PJS child. Only they know the entire circumstances surrounding the decision.

Yet, I'm interested in hearing about what and how potential parents do or don't choose to have children. And what they think about the process.

Interested too to learn more. Has PJS shaped us into the unique people we are? Given us important understanding of the value of life? Made us more caring people? Given us a warped sense of humor? :) I know if it weren't for PJS, I wouldn't have met any of you and I'd be a poorer person for the lack. But does it make us special people, for better or worse?

I'd love to hear again from others. Is a PJS life worth living? Worthy of co-creating through conception? Best to avoid? I think we'll have many more opinions/experiences than we have members. Let's listen to one another with open ears.